All variants in the APC gene


Information The variants shown are described using the NM_000038.5 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - exon 4 deletion - APC_000534 - PubMed: Soravia et al. 1998 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - PubMed: Pagenstecher et al. 2007 - - De novo ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - - - APC_000534 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - g.65185_65788del - APC_000534 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 0 - Stefan Aretz
+/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del r.? p.0? deletion, large - deletion, large - pathogenic g.(112073623_112090569)_(112090723_112102022)del - 423-?_531+?del - APC_000534 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - Stefan Aretz
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